Amelogenin x linked chromosome


  • Bhawani Gupta Department of Oral Pathology, Saveetha University, Chennai, Tamil Nadu, India



Amelogenin, Chromosome, Hormone


The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome. In affected members of a Michigan kindred of Eastern European ancestry segregating X-linked amelogenesis imperfecta with a characteristic snow-capped enamel phenotype.


Deutsch D, Haze-Filderman A, Blumenfeld A, Dafni L, Leiser Y, Shay B, et al. Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system. Eur J Oral Sci. 2006;114(1):183-9.

Greene SR, Yuan ZA, Wright JT, Amjad H, Abrams WR, Buchanan JA, et al. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. Arch Oral Biol. 2002;47(3):211-7.

Kida M, Sakiyama Y, Matsuda A, Takabayashi S, Ochi H, Sekiguchi H, et al. A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta. J Dent Res. 2007;86(1):69-72.

Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, et al. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res. 2004;83(5):378-83.

Margolis HC, Beniash E, Fowler CE. Role of macromolecular assembly of enamel matrix proteins in enamel formation. J Dent Res. 2006;85(9):775-93.

Guu NCBI Gene. Available at

Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005;84(12):1117-26.

Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, et al. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res. 2003;44(1):72-8.

Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006;140(23):2547-55.

Amelogenin at the US National Library of Medicine Medical Subject Headings. Available at

Amelogenin, X-Linked (AMELX) 100µg.

Nakahori Y, Takenaka O, Nakagome Y. A human X-Y homologous region encodes 'amelogenin'. Genomics. 1991;9:264-9.

Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet. 1992;50:303-16.

Hart, S., Hart, T., Gibson, C., Wright, J. T. Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Arch. Oral Biol. 45: 79-86, 2000.

Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, et al. Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2001;276:31871-5.

Barron MJ, Brookes SJ, Kirkham J, Shore RC, Hunt C, Mironov A, et al. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Hum Molec Genet. 2010;19:1230-47.

Smith MR. Therapy insight: osteoporosis during hormone therapy for prostate cancer. Nature Reviews. Urol. 2005;2(12):608.

Vodicka R, Vrtel R, Scheinost O, Zapletalova J, Dusek L, Marie G, et al. Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients- alternative to real-time PCR. J Biochem Biophysical Methods. 2004;60(2):151-62.

Ravassipour DB, Powell CM, Phillips CL, Hart PS, Hart TC, Boyd C, et al. Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Archives Oral Biol. 2005;50(7):611-23.

Zvejnieks PA, Tellschow SR, Gudlaugsson EG, Markham N, Shroyer KR. Amelogenin dosage compensation in carcinoma of colon, lung, liver and kidney, is not a marker of clonality in males. Molecular Cellular Probes. 1998;12(4):185-90.

Gibson CW, Yuan ZA, Li Y, Daly B, Suggs C, Aragon MA, et al. Transgenic mice that express normal and mutated amelogenins. J Dental Res. 2007;86(4):331-5.

Tsujigiwa H, Nagatsuka H, Han PP, Gunduz M, Siar CH, Oida S, et al. Analysis of amelogenin gene (AMGX, AMGY) expression in ameloblastoma. Oral Oncol. 2005;41(8):843-50.

Gavva NR, Tamir R, Qu Y, Klionsky L, Zhang TJ, Immke D, et al. AMG 9810 [(E)-3-(4-t-butylphenyl)-N-(2, 3-dihydrobenzo [b] [1, 4] dioxin-6-yl) acrylamide], a novel vanilloid receptor 1 (TRPV1) antagonist with antihyperalgesic properties. J Pharmacol Experimental Therap. 2005;313(1):474-84.

Schmalt HD. Validity of a short form of the achievement-motive grid (AMG-S): evidence for the three-factor structure emphasizing active and passive forms of fear of failure. J Personality Assessment. 2005;84(2):172-84.

Veyhl M, Wagner K, Volk C, Gorboulev V, Baumgarten K, Weber WM, et al. Transport of the new chemotherapeutic agent β-D-glucosylisophosphoramide mustard (D-19575) into tumor cells is mediated by the Na+-D-glucose cotransporter SAAT1. Proceedings National Academy Sci. 1998;95(6):2914-9.

Salido EC, Yen PH, Koprivnikar KT, Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Human Genetics. 1992;50(2):303.

Polverino A, Coxon A, Starnes C, Diaz Z, DeMelfi T, Wang L, et al. AMG 706, an oral, multikinase inhibitor that selectively targets vascular endothelial growth factor, platelet-derived growth factor, and kit receptors, potently inhibits angiogenesis and induces regression in tumor xenografts. Cancer Res. 2006;66(17):8715-21.

Koopman GE, Van Kooyk Y, De Graaff M, Meyer CJ, Figdor CG, Pals ST. Triggering of the CD44 antigen on T lymphocytes promotes T cell adhesion through the LFA-1 pathway. J Immunol. 1990;145(11):3589-93.

Van den Bogaard AE, Hazen M, Hoyer M, Oostenbach P, Stobberingh EE. Effects of Flavophospholipol on Resistance in Fecal Escherichia coli and Enterococci of Fattening P. Antimicrobial Agents Chemotherapy. 2002;46(1):110-8.

Aldred MJ, Crawford PJ, Roberts E, Gillespie CM, Thomas NS, Fenton I, et al. Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics. 1992;14(3):567-73.

Kim JW, Simmer JP, Hu YY, Lin BL, Boyd C, Wright JT, et al. Amelogenin p. M1T and p. W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dental Res. 2004;83(5):378-83.

Fincham AG, Bessem CC, Lau EC, Pavlova Z, Shuler C, Slavkin HC, Snead ML. Human developing enamel proteins exhibit a sex-linked dimorphism. Calcified Tissue Int. 1991;48(4):288-90.

Hart PS, Hart TC, Simmer JP, Wright JT. A nomenclature for X-linked amelogenesis imperfecta. Archives Oral Biol. 2002;47(4):255-60.

Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis imperfecta phenotype–genotype correlations with two amelogenin gene mutations. Archives Oral Biol. 2002;47(4):261-5.

Leflon-Guibout V, Jurand C, Bonacorsi S, Espinasse F, Guelfi MC, Duportail F, et al. Emergence and spread of three clonally related virulent isolates of CTX-M-15-producing Escherichia coli with variable resistance to aminoglycosides and tetracycline in a French geriatric hospital. Antimicrobial Agents Chemotherapy. 2004;48(10):3736-42.

Tsikrikoni A, Kyriakou DS, Rigopoulou EI, Alexandrakis MG, Zachou K, Passam F, Dalekos GN. Markers of cell activation and apoptosis in bone marrow mononuclear cells of patients with autoimmune hepatitis type 1 and primary biliary cirrhosis. J Hepatol. 2005;42(3):393-9.

Vaina LM, Gryzwacz NM, Saiviroonporn P, LeMay M, Bienfang DC, Cowey A. Can spatial and temporal motion integration compensate for deficits in local motion mechanisms? Neuropsychologia. 2003;41(13):1817-36.

Machado AP, Pinto RS, Moyses ZP, Nakandakare ER, Quintao EC, Passarelli M. Aminoguanidine and metformin prevent the reduced rate of HDL-mediated cell cholesterol efflux induced by formation of advanced glycation end products. Int J Biochem Cell Biol. 2006;38(3):392-403.

Passarelli M. Int J Biochem. Cell Biol. (2006). Available at

Lee MR, Dominguez C. Map kinase p38 inhibitors: Clinical results and an intimate look at their interactions with p38α protein. Current Medicinal Chemistry. 2005;12(25):2979-94.

Schroppel B, Fischereder M, Wiese P, Segerer S, Huber S, Kretzler M, et al. Expression of glucose transporters in human peritoneal mesothelial cells. Kidney Int. 1998;53(5):1278-87.

Zheng L, Gong B, Hatala DA, Kern TS. Retinal ischemia and reperfusion causes capillary degeneration: similarities to diabetes. Investigative Ophthalmol Visual Sci. 2007;48(1):361-7.

Franco E, Hodgson S, Lench N, Roberts GJ. Nance‐Horan syndrome: a contiguous gene syndrome involving detection of the ametogenin gene? a case report and molecular analysis. Oral Diseases. 1995;1(1):8-11.

Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, et al. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connective Tissue Res. 2003;44(1):72-8.

Fincham AG, Hu Y, Lau E, Pavlova Z, Slavkin HC, Snead ML. Isolation and partial characterization of a human amelogenin from a single fetal dentition using HPLC techniques. Calcified Tissue Int. 1990;47(2):105-11.

Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g. 8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Archives Oral Biol. 2003;48(8):589-96.

Aldred MJ, Crawford PJ, Queemland B. Molecular biology of hereditary enamel defects. Ciba Found Symp. 1997;205:200-9.

Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Bäckman B, Landegren U, et al. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics. 1991;10(4):971-5.

Bäckman B, Holmgren G. Amelogenesis imperfecta: a genetic study. Human Heredity. 1988;38(4):189-206.

Lagerstrom M, Dahl N, Iselius L, Backman B, Pettersson U. Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. Am J Human Genetics. 1990;46(1):120-5.

Lagerstrom-Fermer M, Pettersson U, Landegren U. Molecular basis and consequences of a deletion in the amelogenin gene, analysed by capture PCR. Genomics. 1993;17(1):89-92.

Lagerstrom-Fermer M, Nilsson M, Backman B, Salido E, Shapiro L, Pettersson U, et al. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics. 1995;26(1):159-62.

Kindelan SA, Brook AH, Gangemi L, Lench N, Wong FS, Fearne J, et al. Detection of a novel mutation in X-linked amelogenesis imperfecta. J Dental Res. 2000;79(12):1978-82.

Lench NJ, Winter GB. Characterisation of molecular defects in X‐linked amelogenesis imperfecta (AIH1). Human Mutation. 1995;5(3):251-9.

Snead ML, Lau EC, Zeichner-David M, Fincham AG, Woo SL, Slavkin HC. DNA sequence for cloned cDNA for murine amelogenin reveal the amino acid sequence for enamel-specific protein. Biochem Biophysical Res Communications. 1985;129(3):812-8.

Collier PM, Sauk JJ, Rosenbloom J, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Archives Oral Biol. 1997;42(3):235-42.

Witkop CJ. Partial expression of sex-linked recessive amelogenesis imperfecta in females’ compatible with the Lyon hypothesis. Oral Surg, Oral Med, Oral Pathol. 1967;23(2):174-82.

Kutsche K, Werner W, Bartsch O, Von der Wense A, Meinecke P, Gal A. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Cytogenetic Genome Res. 2002;99(1-4):297-302.

Weikard R, Pitra C, Kühn C. Amelogenin cross‐amplification in the family Bovidae and its application for sex determination. Molecular Reproduction Development. 2006;73(10):1333-7.

Watson JM, Spencer JA, Graves JA, Snead ML, Lau EC. Autosomal localization of the amelogenin gene in monotremes and marsupials: implications for mammalian sex chromosome evolution. Genomics. 1992;14(3):785-9.

Bekker PJ, Holloway DL, Rasmussen AS, Murphy R, Martin SW, Leese PT, et al. A single‐dose placebo‐controlled study of AMG 162, a fully human monoclonal antibody to RANKL, in postmenopausal women. J Bone Mineral Res. 2004;19(7):1059-66.

Wang B, Nichol JL, Sullivan JT. Pharmacodynamics and pharmacokinetics of AMG 531, a novel thrombopoietin receptor ligand. Clin Pharmacol Therapeutics. 2004;76(6):628-38.




How to Cite

Gupta, B. (2017). Amelogenin x linked chromosome. International Journal of Research in Medical Sciences, 5(10), 4214–4222.



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